Ataxia, and Ichthyosis

Diseases related with Ataxia and Ichthyosis

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


Top matches:

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A


Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by Arsov et al., 2011).In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' profiles. (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Blindness
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low 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:

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 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 PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Low match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Top 5 symptoms//phenotypes associated to Ataxia and Ichthyosis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Anosmia Intellectual disability Cataract Ptosis Growth delay Generalized hypotonia Strabismus Cognitive impairment Micropenis Hypogonadism Cryptorchidism Microcephaly Peripheral neuropathy Blindness

Rare Symptoms - Less than 30% cases


Muscle weakness Bimanual synkinesia Hypothalamic gonadotropin-releasing hormone deficiency Mental deterioration Cerebral atrophy Muscular hypotonia Flexion contracture Optic atrophy Scaling skin Erythroderma Short stature Nyctalopia Retinal degeneration Cardiomyopathy Congestive heart failure Arrhythmia Rod-cone dystrophy Skeletal dysplasia Retinopathy Polyneuropathy Decreased fertility Sensorimotor neuropathy Elevated levels of phytanic acid Hyposmia Visual impairment Hypogonadotrophic hypogonadism Cleft palate Delayed puberty Renal agenesis Abnormality of the eye Decreased testicular size Gynecomastia Lymphopenia Recurrent bacterial infections Leukodystrophy Edema Immunodeficiency Hypoalbuminemia Hypothyroidism Hypoglycemia Proteinuria Hypertriglyceridemia Abnormality of the nervous system Developmental regression Hypocalcemia Stage 5 chronic kidney disease Focal-onset seizure Nephrotic syndrome Epidermal acanthosis Progressive hearing impairment Bilateral ptosis Erectile abnormalities Abnormal renal physiology Paraplegia Recurrent fractures Short fourth metatarsal Hypoplasia of penis Primary amenorrhea Reduced bone mineral density Reduced number of teeth Abnormality of the voice Abnormality of color vision Focal impaired awareness seizure Miosis Multiple epiphyseal dysplasia Anterior hypopituitarism Abnormality of female internal genitalia Increased CSF protein Breast hypoplasia Epiphyseal stippling Dyspareunia Epiphyseal dysplasia Glomerulosclerosis Pigmentary retinopathy Focal segmental glomerulosclerosis Brittle hair Retrognathia Sparse hair Microcornea Small nail Hypergonadotropic hypogonadism Sparse eyelashes Severe muscular hypotonia Macular degeneration Partial agenesis of the corpus callosum Macrotia Keratoconjunctivitis sicca Woolly hair Wide nasal bridge Corneal neovascularization Hypoplasia of teeth Trichorrhexis nodosa Concave nail Tiger tail banding Hyporeflexia Cerebral cortical atrophy Cardiomegaly Congenital nephrotic syndrome Delayed speech and language development Adrenal insufficiency Sensory impairment Renal cyst Primary adrenal insufficiency Primary hypothyroidism Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Absent testis Agenesis of corpus callosum Epicanthus Ventricular septal defect Delayed skeletal maturation Anteverted nares Short nose Limb muscle weakness Neonatal hypotonia Microphthalmia Pes planus Vegetative state Obesity Decreased circulating luteinizing hormone level Anodontia Sparse pubic hair Abnormal renal morphology Microphallus Testicular atrophy Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Olfactory lobe agenesis Unilateral renal agenesis Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Confusion Myoclonus Dementia Depressivity Failure to thrive Bilateral cryptorchidism Azoospermia Feeding difficulties Leukoencephalopathy Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Granular osmiophilic deposits (GROD) in cells Visual hallucinations Athetosis High palate Holoprosencephaly Abnormality of extrapyramidal motor function Bradykinesia Nevus Cleft lip Abnormality of eye movement Facial asymmetry Oral cleft Hypotelorism Dystonia Hypertonia Abnormality of cardiovascular system morphology Progressive visual loss Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Visual loss Autism Autistic behavior Auditory hallucinations Congenital cataract Rhizomelia Abnormality of blood and blood-forming tissues Hammertoe Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Dysarthria Tremor Gait disturbance Subcapsular cataract Congenital ichthyosiform erythroderma Absent speech Cerebellar atrophy Severe short stature Hyperkeratosis Apnea Severe global developmental delay Dry skin Abnormality of vision Abnormality of the coagulation cascade Behavioral abnormality Hepatomegaly Ectropion Myopathy Areflexia Alopecia Hepatosplenomegaly Microtia Muscular dystrophy Hepatic steatosis Everted lower lip vermilion Aortic regurgitation Hyperoxaluria



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