Entry Search - 600286 616531 619621 619708 - OMIM
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Search: '600286 616531 619621 619708 (Search in: MIM number)'
Results: 4 entries.

1:
* 600286. PHOSPHATIDYLINOSITOL 4-KINASE, ALPHA; PI4KA
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:20,707,691-20,858,811
Matching terms: 600286
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
22q11.21 Gastrointestinal defects and immunodeficiency syndrome 2 619708 AR 3
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 AR 3
Spastic paraplegia 84, autosomal recessive 619621 AR 3
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2:
# 616531. NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB
Cytogenetic location: 22q11.21
Matching terms: 616531
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
22q11.21 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 AR 3 PI4KA 600286
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ICD+
ORPHA: 268940, 98889
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3:
# 619621. SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84
Cytogenetic location: 22q11.21
Matching terms: 619621
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
22q11.21 Spastic paraplegia 84, autosomal recessive 619621 AR 3 PI4KA 600286
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Spastic paraplegia - PS303350 - 83 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.13 Spastic paraplegia 78, autosomal recessive AR 3 617225 ATP13A2 610513
1p34.1 Spastic paraplegia 83, autosomal recessive AR 3 619027 HPDL 618994
1p31.1-p21.1 Spastic paraplegia 29, autosomal dominant AD 2 609727 SPG29 609727
1p13.3 ?Spastic paraplegia 63, autosomal recessive AR 3 615686 AMPD2 102771
1p13.2 Spastic paraplegia 47, autosomal recessive AR 3 614066 AP4B1 607245
1q32.1 Spastic paraplegia 23, autosomal recessive AR 3 270750 DSTYK 612666
1q42.13 ?Spastic paraplegia 44, autosomal recessive AR 3 613206 GJC2 608803
1q42.13 ?Spastic paraplegia 74, autosomal recessive AR 3 616451 IBA57 615316
2p23.3 Spastic paraplegia 81, autosomal recessive AR 3 618768 SELENOI 607915
2p22.3 Spastic paraplegia 4, autosomal dominant AD 3 182601 SPAST 604277
2p11.2 Spastic paraplegia 31, autosomal dominant AD 3 610250 REEP1 609139
2q33.1 Spastic paraplegia 13, autosomal dominant AD 3 605280 HSPD1 118190
2q37.3 Spastic paraplegia 30, autosomal recessive AD, AR 3 610357 KIF1A 601255
2q37.3 Spastic paraplegia 30, autosomal dominant AD, AR 3 610357 KIF1A 601255
3q12.2 ?Spastic paraplegia 57, autosomal recessive AR 3 615658 TFG 602498
3q25.31 Spastic paraplegia 42, autosomal dominant AD 3 612539 SLC33A1 603690
3q27-q28 Spastic paraplegia 14, autosomal recessive AR 2 605229 SPG14 605229
4p16-p15 Spastic paraplegia 38, autosomal dominant AD 2 612335 SPG38 612335
4p13 Spastic paraplegia 79A, autosomal dominant AD 3 620221 UCHL1 191342
4p13 Spastic paraplegia 79B, autosomal recessive AR 3 615491 UCHL1 191342
4q25 Spastic paraplegia 56, autosomal recessive AR 3 615030 CYP2U1 610670
5q31.2 Spastic paraplegia 72A, autosomal dominant AD 3 615625 REEP2 609347
5q31.2 ?Spastic paraplegia 72B, autosomal recessive AR 3 620606 REEP2 609347
6p25.1 Spastic paraplegia 77, autosomal recessive AR 3 617046 FARS2 611592
6p21.33 Spastic paraplegia 86, autosomal recessive AR 3 619735 ABHD16A 142620
6q23-q24.1 Spastic paraplegia 25, autosomal recessive AR 2 608220 SPG25 608220
7p22.1 Spastic paraplegia 48, autosomal recessive AR 3 613647 AP5Z1 613653
7q22.1 Spastic paraplegia 50, autosomal recessive AR 3 612936 AP4M1 602296
8p22 Spastic paraplegia 53, autosomal recessive AR 3 614898 VPS37A 609927
8p21.1-q13.3 Spastic paraplegia 37, autosomal dominant AD 2 611945 SPG37 611945
8p11.23 Spastic paraplegia 18A, autosomal dominant AD 3 620512 ERLIN2 611605
8p11.23 Spastic paraplegia 18B, autosomal recessive AR 3 611225 ERLIN2 611605
8p11.23 Spastic paraplegia 54, autosomal recessive AR 3 615033 DDHD2 615003
8p11.21 Spastic paraplegia 85, autosomal recessive AR 3 619686 RNF170 614649
8q12.3 Spastic paraplegia 5A, autosomal recessive AR 3 270800 CYP7B1 603711
8q24.13 Spastic paraplegia 8, autosomal dominant AD 3 603563 WASHC5 610657
9p13.3 Spastic paraplegia 46, autosomal recessive AR 3 614409 GBA2 609471
9q Spastic paraplegia 19, autosomal dominant AD 2 607152 SPG19 607152
10q22.1-q24.1 Spastic paraplegia 27, autosomal recessive AR 2 609041 SPG27 609041
10q24.1 Spastic paraplegia 9B, autosomal recessive AR 3 616586 ALDH18A1 138250
10q24.1 Spastic paraplegia 9A, autosomal dominant AD 3 601162 ALDH18A1 138250
10q24.1 Spastic paraplegia 64, autosomal recessive AR 3 615683 ENTPD1 601752
10q24.2 Spastic paraplegia 33, autosomal dominant AD 3 610244 ZFYVE27 610243
10q24.31 Spastic paraplegia 62, autosomal recessive AR 3 615681 ERLIN1 611604
10q24.32-q24.33 Spastic paraplegia 45, autosomal recessive AR 3 613162 NT5C2 600417
11p14.1-p11.2 ?Spastic paraplegia 41, autosomal dominant AD 2 613364 SPG41 613364
11q12.3 Silver spastic paraplegia syndrome AD 3 270685 BSCL2 606158
11q13.1 Spastic paraplegia 76, autosomal recessive AR 3 616907 CAPN1 114220
12q13.3 Spastic paraplegia 70, autosomal recessive AR 3 620323 MARS1 156560
12q13.3 Spastic paraplegia 10, autosomal dominant AD 3 604187 KIF5A 602821
12q13.3 Spastic paraplegia 26, autosomal recessive AR 3 609195 B4GALNT1 601873
12q23-q24 Spastic paraplegia 36, autosomal dominant AD 2 613096 SPG36 613096
12q24.31 Spastic paraplegia 55, autosomal recessive AR 3 615035 MTRFR 613541
13q13.3 Troyer syndrome AR 3 275900 SPART 607111
13q14 Spastic paraplegia 24, autosomal recessive AR 2 607584 SPG24 607584
13q14.2 Spastic paraplegia 88, autosomal dominant AD 3 620106 KPNA3 601892
14q12-q21 Spastic paraplegia 32, autosomal recessive AR 2 611252 SPG32 611252
14q12 Spastic paraplegia 52, autosomal recessive AR 3 614067 AP4S1 607243
14q13.1 ?Spastic paraplegia 90B, autosomal recessive AD 3 620417 SPTSSA 613540
14q13.1 Spastic paraplegia 90A, autosomal dominant AD 3 620416 SPTSSA 613540
14q22.1 Spastic paraplegia 3A, autosomal dominant AD 3 182600 ATL1 606439
14q22.1 Spastic paraplegia 28, autosomal recessive AR 3 609340 DDHD1 614603
14q24.1 Spastic paraplegia 15, autosomal recessive AR 3 270700 ZFYVE26 612012
14q24.3 Spastic paraplegia 87, autosomal recessive AR 3 619966 TMEM63C 619953
15q11.2 Spastic paraplegia 6, autosomal dominant AD 3 600363 NIPA1 608145
15q21.1 Spastic paraplegia 11, autosomal recessive AR 3 604360 SPG11 610844
15q21.2 Spastic paraplegia 51, autosomal recessive AR 3 613744 AP4E1 607244
15q22.31 Mast syndrome AR 3 248900 ACP33 608181
16p12.3 Spastic paraplegia 61, autosomal recessive AR 3 615685 ARL6IP1 607669
16q13 Spastic paraplegia 89, autosomal recessive AR 3 620379 AMFR 603243
16q23.1 Spastic paraplegia 35, autosomal recessive AR 3 612319 FA2H 611026
16q24.3 Spastic paraplegia 7, autosomal recessive AD, AR 3 607259 PGN 602783
17q25.3 Spastic paraplegia 82, autosomal recessive AR 3 618770 PCYT2 602679
19p13.2 Spastic paraplegia 39, autosomal recessive AR 3 612020 PNPLA6 603197
19q12 ?Spastic paraplegia 43, autosomal recessive AR 3 615043 C19orf12 614297
19q13.12 Spastic paraplegia 75, autosomal recessive AR 3 616680 MAG 159460
19q13.32 Spastic paraplegia 12, autosomal dominant AD 3 604805 RTN2 603183
19q13.33 ?Spastic paraplegia 73, autosomal dominant AD 3 616282 CPT1C 608846
22q11.21 Spastic paraplegia 84, autosomal recessive AR 3 619621 PI4KA 600286
Xq11.2 Spastic paraplegia 16, X-linked, complicated XLR 2 300266 SPG16 300266
Xq22.2 Spastic paraplegia 2, X-linked XLR 3 312920 PLP1 300401
Xq24-q25 Spastic paraplegia 34, X-linked XLR 2 300750 SPG34 300750
Xq28 MASA syndrome XLR 3 303350 L1CAM 308840
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ICD+
ORPHA: 631079
DO: 0112347
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4:
# 619708. GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2
Cytogenetic location: 22q11.21
Matching terms: 619708
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
22q11.21 Gastrointestinal defects and immunodeficiency syndrome 2 619708 AR 3 PI4KA 600286
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Gastrointestinal defect and immunodeficiency syndrome - PS243150 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p21 Gastrointestinal defects and immunodeficiency syndrome AR 3 243150 TTC7A 609332
22q11.21 Gastrointestinal defects and immunodeficiency syndrome 2 AR 3 619708 PI4KA 600286
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Links
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ICD+
ORPHA: 2300
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Search: 600286 616531 619621 619708 (Search in: MIM number)
Results: 4 entries.

1:
* 600286. PHOSPHATIDYLINOSITOL 4-KINASE, ALPHA; PI4KA
Cytogenetic location: 22q11.21, Genomic coordinates (GRCh38): 22:20,707,691-20,858,811
Matching terms: 600286

2:
# 616531. NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB
Cytogenetic location: 22q11.21
Matching terms: 616531

3:
# 619621. SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84
Cytogenetic location: 22q11.21
Matching terms: 619621

4:
# 619708. GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2
Cytogenetic location: 22q11.21
Matching terms: 619708


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 4, 2024