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midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

MONDO:0010516

Also known as:MFHIENmidface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessivemidface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN

Overview

GeneticsX-linked · AMMECR1 (chr X)

OnsetCONGENITAL, ANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Nephrocalcinosis, Elliptocytosis, Short stature, and Narrow mouth and others; and common findings: Large forehead, Strabismus, Short femur, and Wide intermamillary distance and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Flat face, Thin upper lip vermilion, Submucous cleft hard palate

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AMMECR1 encodes AMMECR nuclear protein 1 (333 aa). Highest expression in Cells Cultured fibroblasts (13.9 TPM) and Skin Sun Exposed Lower leg (11.7 TPM).

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is associated with mutations in the AMMECR1 gene on chromosome X.

AMMECR1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for AMMECR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300990

Orphanet

European rare disease database

Orphanet:688581

Questions for Your Care Team

→Should female family members consider carrier screening for AMMECR1?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

Questions for Your Care Team

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