U.S. flag

An official website of the United States government


Send to:

Choose Destination

Abnormality of coagulation

MedGen UID:
Concept ID:
Synonym: Coagulation abnormalities
HPO: HP:0001928


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:
Concept ID:
Disease or Syndrome
A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).
Noonan syndrome-like disorder with loose anagen hair 1
MedGen UID:
Concept ID:
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:
Concept ID:
Disease or Syndrome
Liver disease, severe congenital
MedGen UID:
Concept ID:
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


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


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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...