HHAT gene related symptoms and diseases
All the information presented here about the HHAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HHAT gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hypermelanotic macule | Uncommon - Between 30% and 50% cases |
| Weight loss | Uncommon - Between 30% and 50% cases |
| Coarse facial features | Uncommon - Between 30% and 50% cases |
| Pallor | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HHAT gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the liver
- Skin rash
- Nausea and vomiting
- Abdominal distention
- Gastrointestinal hemorrhage
- Hyperpigmentation of the skin
- Eosinophilia
- Sarcoma
And 56 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HHAT gene
Here you will find a list of rare diseases related to the HHAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME
Alternate names
CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME Is also known as nivelon-nivelon-mabille syndrome
Description
Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.
Most common symptoms of CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME
- Intellectual disability
- Microcephaly
- Growth delay
- Strabismus
- Intrauterine growth retardation
More info about CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
Search interest in HHAT
Potential gene panels for HHAT gene
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
HHAT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HHAT gene.
More info about this panel United States.
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