Ataxia, and Alopecia

Diseases related with Ataxia and Alopecia

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


Top matches:

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Low match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Low match ARGININOSUCCINIC ACIDURIA


Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

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Other less relevant matches:

Low match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Low match ALG6-CDG


ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Low match CARASIL


CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Low match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Low match LAURENCE-MOON SYNDROME; LNMS


Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (OMIM ), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by Hufnagel et al., 2015).Oliver-McFarlane syndrome is an allelic disorder.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LAURENCE-MOON SYNDROME; LNMS

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Ataxia and Alopecia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Failure to thrive Muscular hypotonia Hepatomegaly Cognitive impairment Sparse hair Lethargy Encephalopathy Hypertonia Strabismus Generalized hypotonia

Rare Symptoms - Less than 30% cases


Dysmetria Hypoglycemia Hyperventilation Agenesis of corpus callosum Hyperammonemia Hypertension Tachypnea Edema Rod-cone dystrophy Hyperactivity Dysarthria Febrile seizures Peripheral neuropathy Aciduria Hypogonadism Micropenis Spastic paraplegia Paraplegia Retinal degeneration Thick eyebrow Pigmentary retinopathy Long eyelashes Areflexia Choroideremia Muscle weakness Coma Irritability Delayed speech and language development Vomiting Thrombocytopenia Feeding difficulties in infancy Weight loss Microcephaly External genital hypoplasia Short metacarpal Hemiparesis Retinopathy Short 1st metacarpal Tetraparesis Abnormality of extrapyramidal motor function Peripheral demyelination Memory impairment Abnormality of the hand Urinary incontinence Unsteady gait Diplopia Hypopituitarism Neurodegeneration Scrotal hypoplasia Polydactyly Slurred speech Spastic gait Pseudobulbar signs Pseudobulbar paralysis Diffuse white matter abnormalities Spastic ataxia Stroke-like episode Progressive encephalopathy Gaze-evoked nystagmus Knee pain Urinary urgency Leukoencephalopathy Emotional lability Apathy Diffuse leukoencephalopathy Diffuse demyelination of the cerebral white matter Arteriosclerosis of small cerebral arteries Flexion contracture Back pain Low back pain Arteriosclerosis Distal amyotrophy Cryptorchidism Iris coloboma Motor delay Fever Optic atrophy Ventriculomegaly Diarrhea Microphthalmia Cerebral atrophy Pneumonia Autism Autistic behavior Coloboma Tetraplegia Central heterochromia Spastic tetraplegia Aspiration Leukopenia Delayed gross motor development Breast carcinoma Hypoventilation Aspiration pneumonia Diffuse cerebral atrophy Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Neoplasm Long eyebrows Frontal bossing Progressive cerebellar ataxia Cerebellar atrophy Obesity Severe short stature Gait ataxia Hypothyroidism Pallor Distal muscle weakness Small for gestational age Delayed puberty Peripheral axonal neuropathy Abnormality of the cerebral white matter Growth hormone deficiency Alopecia areata Hypoplasia of penis Sparse scalp hair Clumsiness Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Ophthalmoplegia Hyperinsulinemic hypoglycemia Stroke Hepatic fibrosis Keratoconjunctivitis Desquamation of skin soon after birth Congenital lactic acidosis Perioral eczema EEG abnormality Abnormality of the liver Scarring Attention deficit hyperactivity disorder Cirrhosis Decreased liver function Aminoaciduria Anorexia Intellectual disability, progressive Brittle hair Increased reactive oxygen species production Alkalosis Cerebral edema Dry hair Trichorrhexis nodosa Abnormal hair quantity Oroticaciduria Respiratory alkalosis Hypoargininemia Organic aciduria Inflammatory abnormality of the skin Hyperglutaminemia Pancytopenia Scoliosis Low-set ears Intrauterine growth retardation Midface retrusion Absent speech Constipation Cerebellar hypoplasia Nail dystrophy Carious teeth Abnormality of skin pigmentation Intellectual disability, profound Eczema Fine hair Bone marrow hypocellularity CNS hypomyelination Oral leukoplakia Respiratory distress Acidosis Skin rash Hypotrichosis Nausea and vomiting Lactic acidosis Metabolic acidosis Protein avoidance Episodic ammonia intoxication Abnormal pyramidal sign Reduced antithrombin III activity Broad-based gait Cerebral visual impairment Abnormal intestine morphology Polycystic ovaries Partial agenesis of the corpus callosum Alopecia of scalp Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Increased serum testosterone level Reduced factor XI activity Hepatic failure Elevated serum transaminases during infections Pain Spasticity Hyperreflexia Gait disturbance Dysphagia Babinski sign Dementia Osteoporosis Rigidity Mental deterioration Intention tremor Hypermetropia Hearing impairment Scaling skin Sensorineural hearing impairment Cataract Ptosis Myopathy Hepatosplenomegaly Microtia Muscular dystrophy Ichthyosis Hepatic steatosis Everted lower lip vermilion Aortic regurgitation Ectropion Muscular hypotonia of the trunk Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Tremor Intellectual disability, severe Blindness Recurrent infections Uraciluria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Ventricular hypertrophy, related diseases and genetic alterations Lymphoma and Facial palsy, related diseases and genetic alterations Brachydactyly and Intestinal malrotation, related diseases and genetic alterations Nystagmus and Gait disturbance, related diseases and genetic alterations Hypertelorism and Dolichocephaly, related diseases and genetic alterations

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