ANKH gene related symptoms and diseases

All the information presented here about the ANKH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANKH gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Mixed hearing impairment Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Mandibular prognathia Uncommon - Between 30% and 50% cases
Conductive hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ANKH gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Facial palsy
  • Arthralgia
  • Hyperostosis
  • Flared metaphysis
  • Metaphyseal dysplasia
  • Sensorineural hearing impairment
  • Nasal obstruction
  • Sclerosis of skull base

And 65 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ANKH gene

Here you will find a list of rare diseases related to the ANKH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION


Alternate names

FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION Is also known as hereditary calcium pyrophosphate deposition, familial cc, familial cppd, familial articular chondrocalcinosis, calcium pyrophosphate dihydrate crystal deposition disease, hereditary articular chondrocalcinosis, hereditary cc, chondrocalcinosis with early-onset o

Description

Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).

Most common symptoms of FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION

  • Seizures
  • Arthralgia
  • Arthritis
  • Limitation of joint mobility
  • Osteoarthritis


More info about FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION

SOURCES: OMIM ORPHANET

CHONDROCALCINOSIS 2; CCAL2


Alternate names

CHONDROCALCINOSIS 2; CCAL2 Is also known as calcium pyrophosphate dihydrate deposition disease, cppdd, calcium gout, chondrocalcinosis, familial articular, calcium pyrophosphate arthropathy

Description

Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis (CCAL1 ) has been mapped to chromosome 8q.

Most common symptoms of CHONDROCALCINOSIS 2; CCAL2

  • Intellectual disability
  • Seizures
  • Pain
  • Arthralgia
  • Arthritis


More info about CHONDROCALCINOSIS 2; CCAL2

SOURCES: MESH OMIM

CRANIOMETAPHYSEAL DYSPLASIA


Description

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Most common symptoms of CRANIOMETAPHYSEAL DYSPLASIA

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


More info about CRANIOMETAPHYSEAL DYSPLASIA

SOURCES: ORPHANET OMIM

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD


Alternate names

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj, cmd, craniometaphyseal dysplasia, jackson type

Description

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

Most common symptoms of CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

SOURCES: MESH OMIM


Potential gene panels for ANKH gene

ANKH Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ANKH gene.

More info about this panel

ANKH Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ANKH gene.

More info about this panel

ANKH Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ANKH gene.

More info about this panel

ANKH Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ANKH gene.

More info about this panel

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

ANKH. Sequencing of the exons 9 and 10 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ANKH gene.

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA

More info about this panel

Craniometaphyseal dysplasia (sequence analysis of ANKH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANKH gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Abnormal mineralization disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Abnormal mineralization disorders Deletion/ Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Abnormal mineralization disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Metaphyseal dysplasia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Metaphyseal dysplasia panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C FLNA MMP13 MMP9 NKX3-2

More info about this panel

Syndromic Hearing Loss Panel Panel

Germany.

By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Skeletal dysplasia with abnormal mineralization Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1

More info about this panel

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10

More info about this panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

ANKH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANKH gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

Metaphyseal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Skeletal Dysplasia with Abnormal Mineralization Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Craniometaphyseal dysplasia Panel

Spain.

By Bioarray

This panel specifically test the ANKH gene.

More info about this panel

Craniometaphyseal Dysplasia , Sequencing ANKH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANKH gene.

More info about this panel

Craniometaphyseal Dysplasia , Sequencing Exons (9,10) ANKH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANKH gene.

More info about this panel

Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes Panel

Spain.

By Reference Laboratory Genetics Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes that also includes the following genes: ANKH GJA1

More info about this panel

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C

More info about this panel


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