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Ateleiotic dwarfism(IGHD1A)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Growth hormone deficiency, isolated autosomal recessive; IGHD IA; IGHD1A; ILLIG type growth hormone deficiency; Isolated growth hormone deficiency type 1A; Isolated Growth Hormone Deficiency, Type IA; Pituitary dwarfism 1; PITUITARY DWARFISM I; Sexual ateleiotic dwarfism
SNOMED CT: Ateleiotic dwarfism (71003000); Ateliotic dwarfism (71003000); Sexual ateleiotic dwarfism (71003000); Sexual ateliotic dwarfism (71003000); Sexual dwarfism (71003000); Idiopathic pituitary dwarfism (71003000); Hypopituitary dwarfism with normal sexual characteristics (71003000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): GH1 (17q23.3)
Monarch Initiative: MONDO:0009876
OMIM®: 262400
Orphanet: ORPHA231662


Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014). Genetic Heterogeneity of Isolated Growth Hormone Deficiency See IGHD1B (617281) and IGHD2 (173100), both caused by mutation in the GH1 gene; IGHD3 (307200), caused by mutation in the BTK gene (300300); and IGHD4 (618157), caused by mutation in the GHRHR gene (139191). Isolated growth hormone deficiency-5 (IGHD5) has been reclassified as combined pituitary hormone deficiency-7 (CPHD7; 618160). [from OMIM]

Additional description

From MedlinePlus Genetics
Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).

Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.

People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.

Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.

There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.

Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.  https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency

Clinical features

From HPO
Severe short stature
MedGen UID:
Concept ID:
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Growth delay
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Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Prolonged neonatal jaundice
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Concept ID:
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Persistent open anterior fontanelle
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Concept ID:
The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
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Disease or Syndrome
A decreased concentration of glucose in the blood.
High forehead
MedGen UID:
Concept ID:
An abnormally increased height of the forehead.
Depressed nasal ridge
MedGen UID:
Concept ID:
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Decreased serum insulin-like growth factor 1
MedGen UID:
Concept ID:
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Reduced circulating growth hormone concentration
MedGen UID:
Concept ID:
Concentration of growth hormone in the blood circulation below normal limits.

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