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Abnormality of coagulation

MedGen UID:
375979
Concept ID:
C1846821
Finding
Synonym: Coagulation abnormalities
 
HPO: HP:0001928

Definition

An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of coagulation

Conditions with this feature

SSR4-congenital disorder of glycosylation
MedGen UID:
860832
Concept ID:
C4012395
Disease or Syndrome
Congenital disorder of glycosylation type Iy (CDG1Y) is an X-linked disorder characterized by developmental delay, speech delay, impaired intellectual development, muscular hypotonia, microcephaly, and distinctive facial features (summary by Johnsen et al., 2024).
Noonan syndrome-like disorder with loose anagen hair 1
MedGen UID:
1379805
Concept ID:
C4478716
Disease or Syndrome
Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Reviews Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients. Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.
Mitochondrial complex 3 deficiency, nuclear type 10
MedGen UID:
1719382
Concept ID:
C5394051
Disease or Syndrome
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).

Professional guidelines

PubMed

Li T, Lu H, Zhang W
Emerg Microbes Infect 2020 Dec;9(1):687-690. doi: 10.1080/22221751.2020.1741327. PMID: 32208840Free PMC Article
James AH
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):236-242. doi: 10.1182/asheducation-2016.1.236. PMID: 27913486Free PMC Article
Johnson CA, Snyder MS, Weaver RL
Arch Dis Child 1982 Dec;57(12):950-2. doi: 10.1136/adc.57.12.950. PMID: 7181527Free PMC Article

Recent clinical studies

Etiology

de Mazancourt P, Quélin F, Flaujac C, de Raucourt E, Guillet B, Bauduer F, Ernest V, Beurrier P, Avril A, d'Oiron R, Biron-Andréani C, Meunier S, Dargaud Y
Haemophilia 2023 Jul;29(4):1113-1120. Epub 2023 May 30 doi: 10.1111/hae.14802. PMID: 37252892

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