Ataxia, and Dry skin

Diseases related with Ataxia and Dry skin

In the following list you will find some of the most common rare diseases related to Ataxia and Dry skin that can help you solving undiagnosed cases.


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Medium match HYDROXYKYNURENINURIA


Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

Medium match MPDU1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

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Other less relevant matches:

Medium match XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX


Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Medium match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Medium match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Medium match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Medium match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Top 5 symptoms//phenotypes associated to Ataxia and Dry skin

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Dry skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Retinopathy Weight loss Failure to thrive Muscular hypotonia Erythema Strabismus Optic atrophy Spasticity Intellectual disability Cataract Dysarthria

Rare Symptoms - Less than 30% cases


Diarrhea Scaling skin Nail dysplasia Ichthyosis Abnormality of the eye Severe short stature Cutaneous photosensitivity Growth delay Nail dystrophy Prematurely aged appearance Cachexia Anemia Splenomegaly Pneumonia Renal insufficiency Emotional lability Pulmonary fibrosis Hypertension Neoplasm Alopecia Interstitial pulmonary abnormality Steatorrhea Osteoporosis Generalized hypotonia Sensorineural hearing impairment Demyelinating peripheral neuropathy Abnormal lung morphology Hepatomegaly Abnormality of vision Hypotension Hyperkeratosis Abnormality of the musculature Abnormal pyramidal sign Gait disturbance Hyporeflexia Hypertonia Headache Urticaria Glossitis Restrictive ventilatory defect Decreased testosterone in males Impaired T cell function Cheilitis Ridged nail Recurrent sinusitis Bronchitis IgA deficiency Furrowed tongue Episodic fever IgG deficiency Chronic sinusitis Mild global developmental delay Recurrent viral infections IgM deficiency Conjunctival telangiectasia Generalized lymphadenopathy Corneal erosion Elevated alpha-fetoprotein Ridged fingernail Recurrent pneumonia Paronychia Abnormal facial shape Short metacarpal Low alkaline phosphatase Progressive visual loss Abnormality of epiphysis morphology Abnormality of retinal pigmentation Anosmia Hammertoe Hemiplegia/hemiparesis Heart block Miosis Recurrent candida infections Intraventricular hemorrhage Immunodeficiency Abdominal pain Respiratory failure Arthritis Abnormality of the cerebral white matter Otitis media Specific learning disability Decreased taste sensation Clumsiness Telangiectasia Enuresis nocturna Photophobia Increased sensitivity to ionizing radiation Irritability Abnormal blistering of the skin Hyperpigmentation of the skin Bone marrow hypocellularity Decreased testicular size Leukopenia Abnormal intestine morphology Portal hypertension Malabsorption Hypotrichosis Lethargy Epiphora Inflammatory abnormality of the skin Premature graying of hair Hodgkin lymphoma Aseptic necrosis Oral leukoplakia Aplastic anemia Esophageal stricture Phimosis Reticulated skin pigmentation Pulmonary hemorrhage Tremor Hypogonadism Fine hair Pancytopenia Abnormal eyebrow morphology Thrombocytopenia Cerebral cortical atrophy Blepharitis Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Cryptorchidism Delayed speech and language development Alopecia of scalp Intrauterine growth retardation Pustule Poor appetite Chronic diarrhea Psoriasiform dermatitis Cerebellar hypoplasia Osteopenia Conjunctivitis Abnormality of skin pigmentation Skin ulcer Lymphoma Anorexia Gastrointestinal hemorrhage Cerebral calcification Abnormality of eye movement Abnormality of the foot Carious teeth Nyctalopia Breathing dysregulation Tachycardia Metabolic acidosis Coma Stereotypy Aminoaciduria Congenital sensorineural hearing impairment Renal tubular acidosis Progressive encephalopathy Renal tubular dysfunction Abnormality of the respiratory system Stomatitis Nonprogressive encephalopathy Acidosis Abnormality of tryptophan metabolism Seizures Cognitive impairment Flexion contracture Feeding difficulties Cerebral atrophy Absent speech Apnea Severe global developmental delay Erythroderma Abnormality of the coagulation cascade Jaundice Encephalopathy Skin rash Progressive cerebellar ataxia Hyperreflexia Cerebellar atrophy Babinski sign Constipation Gait ataxia Neurological speech impairment Papule Ophthalmoplegia Facial asymmetry Abnormality of movement Peripheral axonal neuropathy Abnormality of the skin Vomiting Intention tremor Hypohidrosis Limb ataxia Fasciculations Macular degeneration Dysdiadochokinesis Macule Orthostatic hypotension Impaired smooth pursuit Supranuclear gaze palsy Supranuclear ophthalmoplegia Hydrocephalus Confusion Developmental regression Absence of subcutaneous fat Deeply set eye Elevated hepatic transaminase Proteinuria Vertigo Ascites Hypoplasia of dental enamel Narrow face Neoplasm of the skin Prominent supraorbital ridges High pitched voice Poor coordination Bird-like facies Respiratory distress Lack of subcutaneous fatty tissue Ptosis Peripheral neuropathy Skeletal muscle atrophy Respiratory insufficiency Cardiomyopathy Intellectual disability, severe Microphthalmia Abnormality of metabolism/homeostasis Pes cavus Skeletal dysplasia Intellectual disability, mild Ventriculomegaly Diplopia Areflexia Melanoma Dermal atrophy Basal cell carcinoma Poikiloderma Arteriosclerosis Squamous cell carcinoma of the skin Abnormality of amino acid metabolism Numerous pigmented freckles Hypertelorism Wide nasal bridge Malar flattening Rod-cone dystrophy Scoliosis Flat face Retinal dystrophy Single transverse palmar crease Polyneuropathy Abnormal bleeding Depressed nasal ridge Decreased liver function Abnormal electroretinogram Hypocholesterolemia Esodeviation Very long chain fatty acid accumulation Increased serum zinc



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Mitral valve prolapse, related diseases and genetic alterations Ptosis and Renal dysplasia, related diseases and genetic alterations Strabismus and Developmental regression, related diseases and genetic alterations Micrognathia and Lower limb muscle weakness, related diseases and genetic alterations Nystagmus and Severe global developmental delay, related diseases and genetic alterations Anemia and Neonatal hypotonia, related diseases and genetic alterations

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