X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

MedGen UID:: 930588
•Concept ID:: C4304919
•: Disease or Syndrome

Synonym:	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
SNOMED CT:	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (719156006)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019416
Orphanet:	ORPHA85317

Definition

This syndrome is characterised by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinaemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

Recent clinical studies

Prognosis

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Neurogenetics 2017 Dec;18(4):185-194. Epub 2017 Aug 26 doi: 10.1007/s10048-017-0520-x. PMID: 28842795 Free PMC Article

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D
Nat Genet 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. PMID: 8841189

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Clinical prediction guides

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.

Chudley AE, Tackels DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, Schwartz CE
Am J Med Genet 1999 Jul 30;85(3):255-62. doi: 10.1002/(sici)1096-8628(19990730)85:3<255::aid-ajmg14>3.0.co;2-z. PMID: 10398239

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

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X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

Definition

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

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